GLUTARIC ACIDURIA TYPE-I - CLINICAL HETEROGENEITY AND NEURORADIOLOGICAL FEATURES

被引:69
作者
AMIR, N
ELPELEG, O
SHALEV, RS
CHRISTENSEN, E
机构
[1] BIKUR CHOLIM HOSP,DEPT PEDIAT,JERUSALEM,ISRAEL
[2] RIGSHOSP,METAB LAB,CLIN GENET SECT,DK-2100 COPENHAGEN O,DENMARK
关键词
D O I
10.1212/WNL.37.10.1654
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
引用
收藏
页码:1654 / 1657
页数:4
相关论文
共 19 条
[1]  
AICARDI J, 1985, DEV MED CHILD NEUROL, V27, P401
[2]   TREATMENT OF GLUTARYL-COA DEHYDROGENASE-DEFICIENCY (GLUTARIC ACIDURIA) - EXPERIENCE WITH DIET, RIBOFLAVIN, AND GABA ANALOG [J].
BRANDT, NJ ;
GREGERSEN, N ;
CHRISTENSEN, E ;
GRON, IH ;
RASMUSSEN, K .
JOURNAL OF PEDIATRICS, 1979, 94 (04) :669-673
[3]  
BRANDT NJ, 1978, CLIN GENET, V13, P77
[4]   IMPROVED ASSAY OF GLUTARYL-COA DEHYDROGENASE IN CULTURED-CELLS AND LIVER - APPLICATION TO GLUTARIC ACIDURIA TYPE-I [J].
CHRISTENSEN, E .
CLINICA CHIMICA ACTA, 1983, 129 (01) :91-97
[5]   URINARY-EXCRETION OF SUCCINYLACETONE AND DELTA-AMINOLEVULINIC-ACID IN PATIENTS WITH HEREDITARY TYROSINEMIA [J].
CHRISTENSEN, E ;
JACOBSEN, BB ;
GREGERSEN, N ;
HJEDS, H ;
PEDERSEN, JB ;
BRANDT, NJ ;
BAEKMARK, UB .
CLINICA CHIMICA ACTA, 1981, 116 (03) :331-341
[6]   GLUTARIC ACIDURIA TYPE-I PRESENTING WITH HYPOGLYCEMIA [J].
DUNGER, DB ;
SNODGRASS, GJAI .
JOURNAL OF INHERITED METABOLIC DISEASE, 1984, 7 (03) :122-124
[7]  
FLORET D, 1979, ARCH FR PEDIATR, V36, P462
[8]   GLUTARIC ACIDURIA - NEW DISORDER OF AMINO-ACID METABOLISM [J].
GOODMAN, SI ;
MARKEY, SP ;
MOE, PG ;
MILES, BS ;
TENG, CC .
BIOCHEMICAL MEDICINE, 1975, 12 (01) :12-21
[9]  
GOODMAN SI, 1985, INHERITED DISEASES A, P383
[10]   GLUTARIC-ACIDURIA - CLINICAL AND LABORATORY FINDINGS IN 2 BROTHERS [J].
GREGERSEN, N ;
BRANDT, NJ ;
CHRISTENSEN, E ;
GRON, I ;
RASMUSSEN, K ;
BRANDT, S .
JOURNAL OF PEDIATRICS, 1977, 90 (05) :740-745